Canonical Allele Identifier: CA1425382268
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037383G= , CM000665.2:g.183037383G= GRCh38
NC_000003.11:g.182755171G= , CM000665.1:g.182755171G= GRCh37
NC_000003.10:g.184237865G= NCBI36
NG_008100.1:g.67195C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1429C= MANE Select ENSP00000265594.4:p.Pro477=
ENST00000265594.8:c.1429C= ENSP00000265594.4:p.Pro477=
ENST00000476176.5:c.1288C= ENSP00000420433.1:p.Pro430=
ENST00000492597.5:c.1102C= ENSP00000419898.1:p.Pro368=
ENST00000495767.5:c.*1010C= ENSP00000419658.1:n.*1010C=
ENST00000497830.5:c.*1026C= ENSP00000420088.1:n.*1026C=
ENST00000497959.5:c.1263+1643C= ENSP00000420648.1:n.1263+1643C=
ENST00000539926.5:c.979C= ENSP00000441253.2:p.Pro327=
ENST00000610757.4:c.979C= ENSP00000480435.1:p.Pro327=
ENST00000629669.2:c.1263+1643C= ENSP00000486824.1:n.1263+1643C=
NM_001293273.1:c.1078C= NP_001280202.1:p.Pro360=
NM_020166.4:c.1429C= NP_064551.3:p.Pro477=
NR_120639.1:n.1343C=
NR_120640.1:n.2044+1643C=
XM_006713702.1:c.1102C= XP_006713765.1:p.Pro368=
XM_011512992.1:c.1315C= XP_011511294.1:p.Pro439=
XM_011512993.1:c.1377+1643C= XP_011511295.1:n.1377+1643C=
XR_241502.2:n.1524+1643C=
XR_924159.1:n.1576C=
NM_001363880.1:c.1102C= NP_001350809.1:p.Pro368=
XM_011512992.2:c.1315C= XP_011511294.1:p.Pro439=
XR_001740207.2:n.1552C=
XR_001740208.2:n.1552C=
XR_001740209.2:n.1470+1643C=
XR_001740210.1:n.1382C=
XR_002959553.1:n.1552C=
XR_002959554.1:n.1500+1643C=
XR_241502.3:n.1470+1643C=
NM_020166.5:c.1429C= MANE Select NP_064551.3:p.Pro477=
NM_001293273.2:c.1078C= NP_001280202.1:p.Pro360=
NR_120639.2:n.1252C=
NR_120640.2:n.2044+1643C=